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Paroxysmal Nocturnal Hemoglobinuria


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Slide 4

December 2010

The pathogenesis of PNH starts with an acquired somatic mutation in the hematopoietic stem cell. The mutation is in a gene called PIG-A which stands for X-linked phosphatidylinositol glycan complementation class A. The gene product is an enzyme that catalyzes addition of GPI (glycosyl phosphatidyl inositol) link to proteins, which enables them to be associated with the plasma membrane and expressed on the cell surface. Many proteins utilize GPI link for their expression, including CD55 and CD59 which are involved in protecting normal cells from lysis by complement.



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